PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Abstract:

:PAHdb (http://www.mcgill.ca/pahdb ) is a curated relational database (Fig. 1) of nucleotide variation in the human PAH cDNA (GenBank U49897). Among 328 different mutations by state (Fig. 2) the majority are rare mutations causing hyperphenylalaninemia (HPA) (OMIM 261600), the remainder are polymorphic variants without apparent effect on phenotype. PAHdb modules contain mutations, polymorphic haplotypes, genotype-phenotype correlations, expression analysis, sources of information and the reference sequence; the database also contains pages of clinical information and data on three ENU mouse orthologues of human HPA. Only six different mutations account for 60% of human HPA chromosomes worldwide, mutations stratify by population and geographic region, and the Oriental and Caucasian mutation sets are different (Fig. 3). PAHdb provides curated electronic publication and one third of its incoming reports are direct submissions. Each different mutation receives a systematic (nucleotide) name and a unique identifier (UID). Data are accessed both by a Newsletter and a search engine on the website; integrity of the database is ensured by keeping the curated template offline. There have been >6500 online interrogations of the website.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Nowacki PM,Byck S,Prevost L,Scriver CR

doi

10.1093/nar/26.1.220

subject

Has Abstract

pub_date

1998-01-01 00:00:00

pages

220-5

issue

1

eissn

0305-1048

issn

1362-4962

pii

gkb038

journal_volume

26

pub_type

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